In this study, we used next-generation sequencing methods to screen 300 individuals for BRCA1 and BRCA2. A novel mutation (c.849dupT) in BRCA2 was identified in a female patient and her unaffected brothers. This mutation leads to the truncation of BRCA2 functional domains. Moreover, BRCA2 mRNA expression levels in mutation carriers are significantly reduced compared to noncarriers. Immunofluorescence and western blot assays showed that this mutation resulted in reduced BRCA2 protein expression. Thus, we identified a novel mutation that damaged the function and expression of BRCA2 in a family with breast cancer history. The pedigree analysis suggested that this mutation is strongly associated with familial breast cancer. Genetic counsellors suggest that mutation carriers in this family undergo routine screening for breast cancer, as well as other malignancies, such as prostate and ovarian cancer. The effects of this BRCA2 mutation on drug resistance should be taken into consideration during treatment.
Blotting, Western ; BRCA2 Protein ; Breast Neoplasms* ; Breast* ; Drug Resistance ; Female ; Fluorescent Antibody Technique ; Genes, BRCA2 ; High-Throughput Nucleotide Sequencing ; Humans ; Mass Screening ; Nonsense Mediated mRNA Decay* ; Ovarian Neoplasms ; Pedigree ; Prostate ; RNA, Messenger ; Siblings

Objective To evaluate 3D printing abdominal aortic aneurysm model in analysis of clinical teaching effect for standardized resident doctors in vascular surgery department. Methods 48 resi-dents in vascular surgery department in our hospital from December 2016 to September 2017 were seleeected and randomly divided into control group and the experimental group. The traditional vascular surgical anatomy atlas, ultrasound, CT abdominal blood vessel 3D reconstruction, digital subtraction, video and so on were used by 24 residents in the control group, while in the experimental group, on the basis of the traditional teaching, abdominal aortic aneurysm model of 3D printing, true aortic coated stent delivery system were increased. After the teaching, the theory of evaluation (abdominal vascular anatomical features, morphological characteristics and classification of AAA, measurement of various parameters and key points of operation in the EVAR) and satisfaction questionnaire were adopted to evaluate the effect of two kinds of teaching methods. SPSS 19.0 was used to conduct t test on two groups of physician evaluation data. Results The results of theoretical assessment showed that there was no significant difference between the control group and the experimental group in the abdominal vascular anatomical features, the morphological features and the classification of the experimental group (P>0.05) in the examination of the common AAA cases and the complicated AAA cases. However, the experimental group was higher than the control group in the mea-surement of the parameters of EVAR, and the score of the operation points and the total score, and the difference was statistically significant (t=2.283, t=2.263, P<0.05). The results of the questionnaire showed that the students' satisfaction scores on the teaching satisfaction of the normal and complex AAA cases were better than those of the control group, and the difference was statistically significant (P<0.05). Conclusion The 3D printing model can increase the understanding and mastery of the anatomy and treat-ment of abdominal aortic aneurysm and improve its learning enthusiasm for vascular surgery. We should make full use of the advantages of 3D printing technology on the basis of retaining the advantages of tradi-tional teaching methods and means, and further enhance the teaching effect.

Tissue factor pathway inhibitor (TFPI) is the main inhibitor of tissue factor-mediated coagulation.TFPI is expressed by endothelial and smooth muscle celis in the vasculature.Endothelium-derived TFPI has been reported to play a regulatory role in arterial thrombosis.However,the role of endogenous TFPI in vascular smooth muscle cells (VSMCs) in thrombosis and vascular disease development has yet to be elucidated.In this TFPIFlox mice crossbred with Sma-Cre mice were utilized to establish TFPI conditional knockout mice and to examine the effects of VSMC-directed TFPI deletion on development,hemostasis,and thrombosis.The mice with deleted TFPI in VSMCs (TFPIsma) reproduced viable offspring.Plasma TFPI concentration was reduced 7.2％ in the TFPIsma mice compared with TFPFlox littermate controls.Plasma TFPI concentration was also detected in the TFPITie2 (mice deleted TFPI in endothelial cells and cells of hematopoietic origin) mice.Plasma TFPI concentration of the TFPITie2 mice was 80.4％ lower (P ＜ 0.001) than that of the TFPIFlox mice.No difference in hemostatic measures (PT,APTT,and tail bleeding) was observed between TFPIsma and TFPIFlox mice.However,TFPIsma mice had increased ferric chloride-induced arterial thrombosis compared with TFPIFlox littermate controls.Taken together,these data indicated that endogenous TFPI from VSMCs inhibited ferric chloride-induced arterial thrombosis without causing hemostatic effects.

Objective To investigate the methylation situation of let‐7a‐3 promoter in patients with chronic myeloid leukemia (CML) and its clinical significance .Methods The methylation level of let‐7a‐3 promoter in the bone marrow mononuclear cells of 52 CML patients and 25 controls was detected by using the real‐time quantitative methylation‐specific PCR (RQ‐PCR) .Results The non-hypomethylation of let‐7a‐3 promoter was positive in 31 cases(59 .6% ) of 52 CML patients ,while only 1 case(4% ,1/25) in the control group ,the difference between the two groups were statistically significant (P< 0 .01) .The ROC curve analysis showed that the non -hypomethylation of let‐7a‐3 has better specificity for the auxiliary diagnosis of CML .The significantly posi‐tive correlation was found between the non -methylation level of let‐7a‐3 promoter and the BCR/ABL transcription level (r=0 .641 ,P=0 .001) .In contrast ,there was no obvious correlation between the non -methylation level of let‐7a‐3 promoter and the WBC count ,platelet count and hemoglobin levels(P>0 .05) .The non-hypomethylation level of let‐7a‐3 in chronic phase and accel‐erate phase was significantly higher than that in blastic crisis of CML .Conclusion The hypomethylation level of let‐7a‐3 promoter is decreased with disease progression .

Objective To evaluate the application effect of clinical pathways (CP) in children with bronchopneumonia.Methods The literature of randomized controlled trials (RCTs) in children with bronchopneumonia were retrieved by searching PubMed,Cochrane Library,Web of Knowledge,Wanfang database,VIP,and CNKI from their inception date to March 2014.Meta-analysis was performed by Revman 5.2software.Results Six RCTs involving 24 559 patients were finally selected,with 12 269 cases in the CP group and 12 290 cases in the traditional treatment group.The results of Meta-analysis showed that there were significant differences between the CP group and the traditional treatment group in the cure rate [OR =1.67,95 ％ CI (1.03,2.77),P =0.04],length of hospital stay [MD =-1.21,95 ％ CI (-1.95,-0.48),P =0.001],hospitalization expenses [SMD =-3.68,95 ％ CI (-5.04,-2.32),P ＜ 0.000 1],days of antibiotic using [MD =-1.20,95 ％ CI (-1.51,-0.89),P ＜ 0.000 01] and patient satisfaction [OR =6.12,95 ％ CI(3.12,12.04),P ＜ 0.000 01].Conclusion CP is superior compared with the traditional treatment for bronchopneumonia,and is worthy of spread in clinical.

Objective To assess the CSCD-covered 7 journals of pediactrics.Methods The average number of refe rences,cited half life, H index, citation half life, self citation, IF, immediate index, self-cited rate of each paper pub-lished in 2013 in 7 journals of pediactric, covered in China Science and Technology Journal Citation Index Database, were divided into positive correlation group and negative correlation group.Their Spider Web maps were plotted.The papers published in the 7 journals of pediactrics were assessed.Results The top 3 journals, assessed according to the average number of references, IF, and immediate index, were Chinese Journal of Pediatrics,Chinese Journal of Prac-tical Pediatrics, and Chinese Journal of Evidence-based Pediatrics while the top 3 journals, assessed according to their citation half life , self citation, cited half life, and self cited rate, were Chinese Journal of Evidence-based Pe-diatrics,Chinese Journal of Pediatrics, and Journal of Clinical Pediatrics.Conclusion The academic level of the 7 journals of pediatrics is rather high.Chinese Journal of Evidence-based Pediatrics and Chinese Journal of Pediatrics have the highest assessment score.There is a large room for the other 4 journals to improve their academic level.

Objective To investigate the expression level and promoter methylation of SOX17 gene and the clinical correlations in Chinese patients with chronic myeloid leukemia ( CML ) . Methods The levels of SOX17 expression and methylation were detected by RQ-PCR and RQ-MSP. Results SOX17 expression level was significantly lower in CML compared with 30 controls (P=0.001). The area under the receiver operating characteristic (ROC) curve (AUC) was 0.748 to differentiate CML from control (P=0.001). There was a trend of correlation between SOX17 expression and bcr/abl transcript (r = 0.439,P = 0.068) in CML patients. Hypermethylation of SOX17 promoter was detected in 3 (4%) CML patients, however, there was no difference as compared with 32 controls. In our study, SOX17 hypermethylation was not corrected with its expression. Conclusion Decreased SOX17 expression is a common molecular event in CML and may be considered as an available biomarker to diagnose CML. Dysregulated SOX17 is not caused by promoter hypermethylation in CML.

Objective To assess the methodology of papers on systematic reviews and meta-analysis of interventions published in Journal of Evidence-Based Medicine .Methods Basic data were extracted from 70 papers on systematic reviews and meta-analysis of interventions published in Journal of Evidence-Based Medicinefrom 2001 to 2011 .Methodology used in these papers was assessed according to the AMSTAR Scale.The data were input into the Excelland analyzed using the SPSS7.0 and Meta-Analyst software.Results The methodology used in 34 papers (48.6%) was assessed using the Cochrane bias risk assessment tools.Fund support, number of authors and their affiliated institutions did not sig-nificantly affect the total score of methodology used in the 70 papers .Conclusion The methodology used in papers on systematic reviews and meta-analysis of interventions published in Journal of Evidence-Based Medicine is not quite valid as its early design program and retrieval strategies are imperfect , and it does not provide the excluded literature list and the interest conflict.

Objective To summarize the experience of surgical management of carotid tumors ( CBT ) and application of shunt between common and internal carotid artery intraoperatively. Methods Thirty patients of CBT (mean age:39. 2 ±2. 3 years old,10 male and 20 female, 15 in left, 14 in right and 1 in both sides) who underwent surgical resection, were retrospectively reviewed. The average size of CBT was 4.9 ±0.3 cm. The diagnosis was established by ultrasound, CT, MRI or carotid arteriography. 16 patients underwent surgical resection of CBT, 10 patients underwent additional ligation of external carotid artery, and 4 patients underwent additional intraoperative shunt between common and internal carotid artery. Results Surgical procedures were successfully performeded in all 30 patients with CBT. Intraoperative shunts were successfully used between common and internal carotid artery in 4 patients. The postoperative complications included hoarseness (15) , bucking (11), crooked tongue ( 17) , dyspnea (1), dysphagia(3). There was no hemiplegia and death. Conclusion Surgical resection is the choice of treatment of carotid body tumor. The application of intraoperative shunt between common and internal carotid artery in complicated Shamblin Ⅲ stage is safe and effective.

Objective To explore the indications for liver transplantation among patients with hepatolithiasis.Methods Data from 1 431 consecutive patients with hepatolithiasis who underwent surgical treatment from January 2000 to December 2006 were retrospectively collected for analysis.Surgical procedures included T-tube insertion combined with intraoperative cholangioscopic removal of intrahepatic stones,hepatectomy,cholangiojejunostomy,and liver transplantation.Results Nine hundred and sixty-one patients who had a stone located in the left or right intrahepatic duct underwent hepatectomy or T-tube insertion combined with intraoperative cholangioscopic removal of intrahepatic stones.The rate of residual stones was 7.5%(72/961).Four hundred and seventy patients who had a stone located in the bilateral intrahepatic ducts underwent surgical procedures other than liver transplantation;the rate of residual stones was 21.7%(102/470).Only 15 patients with hepatolithiasis underwent liver transplantation;they all survived.According to the degree of biliary cirrhosis,recipients were divided into 2 groups: a group with biliary decompensated cirrhosis(n=7),or group with biliary compensated cirrhosis or noncirrhosis group(n=8).There were significant differences in operative times,transfusion volumes and blood losses between 2 groups(P